Quality of Life

The impact of Pompe disease on quality of life was investigated in a study of 210 adults with Pompe disease using the SF-36 questionnaire.[1]

  • In the domains of physical functioning, role functioning-physical, general health, vitality, and social functioning scales, patients with Pompe disease scored significantly lower than the general population (p<0.001 for all scales).
  • The results of this study highlight the effect of the disease on patients’ ability to work, to perform household chores, and to move about independently outside the home. Increasing disability also increases dependence on family members and other supports.

Figure 1: Diminished Quality of Life in Adult Patients with Pompe Disease[1]

Quality of life is diminished among adults with Pompe disease as shown in this comparison of scores on the SF-36 health survey in 51 Dutch patients with Pompe disease and the Dutch general population.



  1. Hagemans ML, Janssens AC, Winkel LP, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004; 63:1688-92.
  2. Hagemans ML, Laforet P, Hop WJ, et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromusc Disord. 2007. 17(7):537-43.

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